ClinVar for MedGen (Select 120571) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344867	NM_003396.3(WNT9B):c.11dup (p.Pro5fs)	LRRC37A2, WNT9B (P5fs)	Duplication (frameshift variant)	Renal dysplasia +2 more	GLikely pathogenic
Select item 1328399	NM_000278.5(PAX2):c.576del (p.Ile193fs)	PAX2 (I193fs +1 more)	Deletion (frameshift variant)	Renal hypoplasia	GLikely pathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 691939	NM_024072.4(DDX54):c.856G>A (p.Val286Met)	DDX54 (V286M)	Single nucleotide variant (missense variant)	DDX54-related condition	GBenign
Select item 523499	NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)	KAT6B (R438fs +7 more)	Deletion (frameshift variant)	Blepharophimosis +9 more	GLikely pathogenic
Select item 523435	NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	PRMT7 (E108* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +17 more	GPathogenic/Likely pathogenic
Select item 523434	NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)	PRMT7 (C571* +4 more)	Single nucleotide variant (nonsense +1 more)	Acanthosis nigricans +14 more	GPathogenic
Select item 242914	NM_000503.6(EYA1):c.121G>C (p.Glu41Gln)	EYA1 (E41Q +1 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +1 more	GConflicting classifications of pathogenicity

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